Detection of somatic mutations in sporadic epilepsies

Researcher

Project Details

Investigation of genetic epilepsies has proven highly successful in recent years. A wide variety of genes causing human epilepsies have been discovered, de novo mutagenesis has emerged as very important and unexpected biological pathways have been identified. This has provided important diagnostic and counseling information for patients and their families. We recently posited that there may be a sizeable ‘hidden genetics’ of epilepsy due to somatic mutation that is difficult or impossible to detect by conventional analysis of peripheral blood samples. This has been supported by discovery of somatic mutations confined to the brain in certain malformation syndromes where brain tissue is available and very recently by analysis of post-mortem tissue in autism. Here we wish to push the boundaries and establish routine techniques to detect genetic variation in the brain by minimally invasive methods. This would then be applicable to epilepsies and other brain disorders for gene discovery and eventually for translation of precision medicine therapies at the clinic.